Bottom Line:
TSC has a wide variety of clinical and radiologic manifestations.It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious.Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.

Background: Tuberous Sclerosis (TSC) also known as Bourneville disease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rate of spontaneous mutation. It is the second most common neurocutaneous syndrome after neurofibromatosis. This disease demonstrates a widespread potential for hamartomatous growths in multiple organ systems.

Case report: We report a case of a 36-year-old female with TSC presenting as massive hematuria with underlying giant bilateral renal angiomyolipomas (AML) with estimated total tumor burden of more than 8 kg which is to the best of our knowledge the highest ever reported. The patient also had lymphangioleiomyomatosis and lesions in the brain, skin, teeth and bones.

Conclusions: TSC has a wide variety of clinical and radiologic manifestations. It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious. Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.

f1-poljradiol-80-435: (A) Oblique coronal US image of the right renal region showing a heterogenous mass with a large echogenic fatty component and a less echogenic soft-tissue component with prominent vessels within it (arrow). (B, C) Oblique coronal color Doppler US image in the right and left renal region respectively, showing highly vascular fatty masses. (D) Subcostal US scan of the liver showing presence of small echogenic lesions in both lobes consistent with small angiomyolipomas.

Mentions:
Emergency ultrasound (US) of the abdomen revealed multiple heterogeneously hyperechoic masses occupying the whole abdomen, showing internal tortuous vessels with aneurysmal dilations at places which were seen on color Doppler scans (Figure 1A–1C). The mass on the right side showed a large non-fatty soft tissue component along its superior aspect (Figure 1A). Kidneys were not visualized separately from the mass. The liver revealed a few small well-defined hyperechoic lesions (Figure 1D). That sonographic appearance was suggestive of giant bilateral renal angiomyolipomas (AML) and small hepatic AMLs. Non-contrast-enhanced computed tomography (CT) of the brain, thorax, and abdomen was carried out which confirmed the sonographic diagnosis of giant bilateral renal AMLs with prominent fatty components and internal prominent vessels showing aneurysmal dilations at places (due to her deranged RFTs, contrast-enhanced CT could not be carried out.) Those lesions measured 29×27.5×15.5 cm on the right side and 30×19×13 cm on the left side (Figure 2A, 2B). The urinary bladder showed hyperdense fluid with attenuation of 30–40 Hounsfield units suggestive of hemorrhagic contents. Small well-defined lesions having fat density were seen in the liver, consistent with AMLs. Volumes of both kidneys were calculated using CT volumetry software. The right kidney measured 4546.7 cc and the left one 3758.3 cc, with a total tumor volume of 8305 cc and estimated tumor burden of more than 8 kg.

f1-poljradiol-80-435: (A) Oblique coronal US image of the right renal region showing a heterogenous mass with a large echogenic fatty component and a less echogenic soft-tissue component with prominent vessels within it (arrow). (B, C) Oblique coronal color Doppler US image in the right and left renal region respectively, showing highly vascular fatty masses. (D) Subcostal US scan of the liver showing presence of small echogenic lesions in both lobes consistent with small angiomyolipomas.

Mentions:
Emergency ultrasound (US) of the abdomen revealed multiple heterogeneously hyperechoic masses occupying the whole abdomen, showing internal tortuous vessels with aneurysmal dilations at places which were seen on color Doppler scans (Figure 1A–1C). The mass on the right side showed a large non-fatty soft tissue component along its superior aspect (Figure 1A). Kidneys were not visualized separately from the mass. The liver revealed a few small well-defined hyperechoic lesions (Figure 1D). That sonographic appearance was suggestive of giant bilateral renal angiomyolipomas (AML) and small hepatic AMLs. Non-contrast-enhanced computed tomography (CT) of the brain, thorax, and abdomen was carried out which confirmed the sonographic diagnosis of giant bilateral renal AMLs with prominent fatty components and internal prominent vessels showing aneurysmal dilations at places (due to her deranged RFTs, contrast-enhanced CT could not be carried out.) Those lesions measured 29×27.5×15.5 cm on the right side and 30×19×13 cm on the left side (Figure 2A, 2B). The urinary bladder showed hyperdense fluid with attenuation of 30–40 Hounsfield units suggestive of hemorrhagic contents. Small well-defined lesions having fat density were seen in the liver, consistent with AMLs. Volumes of both kidneys were calculated using CT volumetry software. The right kidney measured 4546.7 cc and the left one 3758.3 cc, with a total tumor volume of 8305 cc and estimated tumor burden of more than 8 kg.

Bottom Line:
TSC has a wide variety of clinical and radiologic manifestations.It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious.Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.

Background: Tuberous Sclerosis (TSC) also known as Bourneville disease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rate of spontaneous mutation. It is the second most common neurocutaneous syndrome after neurofibromatosis. This disease demonstrates a widespread potential for hamartomatous growths in multiple organ systems.

Case report: We report a case of a 36-year-old female with TSC presenting as massive hematuria with underlying giant bilateral renal angiomyolipomas (AML) with estimated total tumor burden of more than 8 kg which is to the best of our knowledge the highest ever reported. The patient also had lymphangioleiomyomatosis and lesions in the brain, skin, teeth and bones.

Conclusions: TSC has a wide variety of clinical and radiologic manifestations. It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious. Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.